Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. Pediatrics. 2015;136(1):e262-6. [slideblast.com]

A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. [ncbi.nlm.nih.gov]

Conclusion: The characteristic findings of a gigantic PDA in combination with a bilateral mydriasis should lead to the presumed diagnosis of a the ACTA2 mutation with the clinical presentation of multisystemic smooth muscle dysfunction syndrome. [thieme-connect.com]

Diffuse white matter changes were present. Other medical problems included vesicoureteral reflux and bladder hypotonia. [pediatrics.aappublications.org]

Acronym MSMDYS Synonyms Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Tachypnea

  Cryptorchidism ; Dilatation of the cerebral artery ; Hyperperistalsis ; Hypertension ; Intestinal malrotation ; Mydriasis ; Patent ductus arteriosus ; Periventricular white matter hyperdensities ; Pulmonary arterial hypertension ; Retinal infarction ; Tachypnea [mousephenotype.org]

  Pharmacologic PDA closure has failed before and there were clinical signs of heart failure with tachypnea and left heart failure including retrograde flow in the abdominal aorta and severe pulmonary hypertension. In addition there was a small ASD. [thieme-connect.com]

  […] malrotation 0002566 Mydriasis Dilated pupil 0011499 Patent ductus arteriosus 0001643 Periventricular white matter hyperdensities 0030891 Pulmonary arterial hypertension Increased blood pressure in blood vessels of lungs 0002092 Retinal infarction 0007866 Tachypnea [rarediseases.info.nih.gov]

  Decreased SMC function of pulmonary alveoles leads to tachypnea at birth, pulmonary hypertension, asthma, bronchiectasis, and emphysema. Reported patients with congenital fixed dilated pupils had pupil diameters ranging from 5.5 to 7 mm. [journals.lww.com]

• Aniridia

  In less severe forms, the earliest signs of MSMDS are congenital fixed mydriasis (can be misdiagnosed as partial aniridia), and a PDA requiring surgical intervention. [en.wikipedia.org]

  This developmental anomaly has sometimes been misdiagnosed as aniridia. [ophthalmologia.be]

  Although iris morphology is pathognomonic, it has sometimes been misdiagnosed as aniridia. [journals.lww.com]

  When Ella was born and still in the hospital, she was misdiagnosed with an eye condition called Aniridia later in 2015 they found out it was actually Congenital Mydriasis. [mywonderfulwalls.com]

  Published 04 January 2018 Issue Date October 2018 DOI https://doi.org/10.1038/gim.2017.245 Keywords ACTA2 congenital mydriasis patent ductus arteriosus smooth muscle dysfunction syndrome thoracic aortic aneurysm Further reading The genetic architecture of aniridia [doi.org]

• Pupillary Abnormality

  Results All patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. [doi.org]

  An ACTA2 mutation was suspected in light of the pupillary abnormality and aneurysmal PDA. Genetic testing confirmed a de novo Arg179His ACTA2 mutation. [pediatrics.aappublications.org]

• Withdrawn

  […] symbols: ACTSA ) Mouse Orthologs Acta2 (Withdrawn symbols: 0610041G09Rik, Actvs ) Source OMIM:613834 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models [mousephenotype.org]

• Mydriasis

  Congenital mydriasis is an extremely rare pupil anomaly and is the feature for the early diagnosis of this new syndrome. [ncbi.nlm.nih.gov]

  In less severe forms, the earliest signs of MSMDS are congenital fixed mydriasis (can be misdiagnosed as partial aniridia), and a PDA requiring surgical intervention. [en.wikipedia.org]

  Conclusions Congenital mydriasis is an extremely rare pupil anomaly and is the feature for the early diagnosis of this new syndrome. [bjo.bmj.com]

  Methods We describe ophthalmological manifestations in 2 patients with congenital mydriasis and multisystemic smooth muscle dysfunction associated with R179H mutation in the ACTA2 gene. [ophthalmologia.be]

  Genetic Counseling: Based on the typical clinical findings with maximal mydriasis and a gigantic PDA further focused genetic analysis revealed a ACTA2 mutation of the protein α-actin in the smooth muscle cells. [thieme-connect.com]

• White Matter Lesions

  Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). [doi.org]

  At age 19 months, MRI showed multifocal parieto-occipital white matter lesions. At 5 years of age, the patient developed rapidly progressive loss of motor control, with dystonic gait, poor balance, and dysarthria. [journals.lww.com]

Lastly, this volume includes sections on the newly emerging field of therapeutic angiogenesis, and the developing technology of nanoparticle-based imaging and therapeutic treatment of the diseased vasculature. [books.google.com]

Patient History: The patient (ex 36 weeks of gestation, birth weight 2,565 g) was referred to our center at the age of 4 weeks (2,590 g, 48 cm) for the treatment of a gigantic PDA. [thieme-connect.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis MELAS syndrome widely varies in presentation; however, patients in general tend to have a poor prognosis and outcome. The encephalomyopathy tends to be severe and progressive to dementia. [emedicine.medscape.com]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Enormous progress has been made in the identification of genes involved in the etiology of inherited cardiovascular diseases. [centogene.com]

MRI showed diffuse white matter changes of unclear etiology. At age 3 years she presented with transient inability to use her right arm or leg. MRI showed more extensive white matter abnormalities. [pediatrics.aappublications.org]

The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). [em-consulte.com]

Relevant External Links for ACTA2 Genetic Association Database (GAD) ACTA2 Human Genome Epidemiology (HuGE) Navigator ACTA2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ACTA2 No data available for Genatlas for ACTA2 Gene Mutations in [genecards.org]

International The first assessment of the epidemiology of mitochondrial disorders found a prevalence of more than 10.2 per 100,000 for the m.3243A → G mutation in the adult Finnish population. [emedicine.medscape.com]

While comprehensive, the material is presented in a manner that simplifies the complex pathophysiologic mechanisms that underlie common vascular diseases. [books.google.com]

Pathophysiology Strokelike episodes and mitochondrial myopathy characterize MELAS syndrome. [emedicine.medscape.com]

Because the pathophysiology of MYLK mutations is that of dissections and not aneurysms, it is difficult to counsel as to the time of intervention ( 37 ). [annalscts.com]

Elsevier Health Sciences, ٠٨‏/٠٩‏/٢٠١٤ - 161 من الصفحات As the authors describe in this volume dedicated to vision in children, great strides have been made in recent years in preventing and identifying any loss of visual acuity, and, when identified, [books.google.com]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Early diagnosis is relevant for timely treatment and prevention of fatal complications such as arterial dissection/rupture. Congenital heart diseases (CHD) account for ~1% of all live births per year and the prevalence is increasing. [centogene.com]

Conclusion Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications. [doi.org]